Screening for the hereditary spastic paraplaegias SPG4 and SPG3A with the multiplex ligation-dependent probe amplification technique in a large population of affected individuals

Neurological Sciences

Volumn 34, Issue 2, 2013, Pages 239-242

  Sulek, Anna ^a   Elert, Ewelina ^a   Rajkiewicz, Marta ^a   Zdzienicka, Elzbieta ^a   Stepniak, Iwona ^a   Krysa, Wioletta ^a   Zaremba, Jacek ^a  

^a INSTITUTE OF PSYCHIATRY AND NEUROLOGY   (Poland)

Author keywords

ATL1; Hereditary spastic paraplaegia; Multiplex ligation dependent probe amplification; SPAST

Indexed keywords

GENOMIC DNA;

ARTICLE; ATL1 GENE; DISEASE CLASSIFICATION; DNA DETERMINATION; EXON; GENE; GENE DELETION; GENE DUPLICATION; GENE IDENTIFICATION; GENE STRUCTURE; GENETIC PREDISPOSITION; GENETIC SCREENING; HEREDITARY MOTOR SENSORY NEUROPATHY; HEREDITARY SPASTIC PARAPLEGIA SPG3A; HEREDITARY SPASTIC PARAPLEGIA SPG4; HUMAN; MAJOR CLINICAL STUDY; MULTIPLEX LIGATION DEPENDENT PROBE AMPLIFICATION; POLYMERASE CHAIN REACTION; SPAST GENE;

ADENOSINE TRIPHOSPHATASES; FEMALE; GENETIC TESTING; GTP-BINDING PROTEINS; HUMANS; MALE; MEMBRANE PROTEINS; MULTIPLEX POLYMERASE CHAIN REACTION; MUTATION; SEQUENCE DELETION; SPASTIC PARAPLEGIA, HEREDITARY;

EID: 84879694216     PISSN: 15901874     EISSN: 15903478     Source Type: Journal    
DOI: 10.1007/s10072-011-0899-3     Document Type: Article

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